KLHL20 Chromosome 1
Kelch like family member 20
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What This Gene Does
The protein encoded by this gene is a member of the kelch family of proteins, which is characterized by a 44-56 amino acid repeat motif. The kelch motif appears in many different polypeptide contexts and contains multiple potential protein-protein contact sites. Members of this family are present both throughout the cell and extracellularly, with diverse activities. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Kelch like|BTB domain containing"
Locus Type
gene with protein product
Location
1q25.1
Ensembl
ENSG00000076321
Associated Conditions (8)
Intellectual disability
Neurodevelopmental disorder
See cases
KLHL20-related disorder
Seizure
NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET SEIZURES
FACIAL DYSMORPHISM
AND BEHAVIORAL ABNORMALITIES
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2525470752 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1673582111 | Health Risk | Pathogenic/Likely pathogenic | Intellectual disability, Neurodevelopmental disorder, See cases |